The CRISPR-Cas9 knockout DDC SH-SY5Y in vitro model for AADC deficiency provides insight into the pathogenicity of R347Q and L353P variants: a cross-sectional structural and functional analysis.

Carmona-Carmona CA, Bisello G, Franchini R, Lunardi G, Galavotti R, Perduca M, Ribeiro RP, Belviso BD, Giorgetti A, Caliandro R, Lievens PM, Bertoldi M
FEBS J (2025 May 3)

PMID: 40318155 doi: 10.1111/febs.70120

Submitted to SASBDB: 2024 Dec 20 Published in SASBDB: 2025 Apr 2

SASDW74 – Aromatic-L-amino-acid decarboxylase L353P bound to pyridoxal 5'-phosphate (PLP) Sample: Aromatic-L-amino-acid decarboxylase (L353P) dimer, 107 kDa Homo sapiens protein Buffer: 50 mM HEPES, pH: 7.4 Experiment: SAXS data collected at B21, Diamond Light Source on 2021 Jul 7 RgGuinier 3.1 nm Dmax 8.8 nm VolumePorod 152 nm3

SASDW84 – Aromatic-L-amino-acid decarboxylase R347Q bound to pyridoxal 5'-phosphate (PLP) Sample: Aromatic-L-amino-acid decarboxylase (R347Q) dimer, 108 kDa Homo sapiens protein Buffer: 50 mM HEPES, 100 µM pyridoxal 5'-phosphate, pH: 7.4 Experiment: SAXS data collected at BM29, ESRF on 2021 Jul 7 RgGuinier 3.6 nm Dmax 14.2 nm VolumePorod 220 nm3